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G Tromp

Showing results (31-40 of 80) with videos related to

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American Journal of Human Genetics|July 1, 1990
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IVS Kontusaari, G Tromp, H Kuivaniemi, et al.
The Journal of Clinical Investigation|November 1, 1990
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysmsS Kontusaari, G Tromp, H Kuivaniemi, et al.
The European Journal of Surgery = Acta Chirurgica|August 1, 1996
Familial abdominal aortic aneurysms: screening of 71 familiesP Jaakkola, H Kuivaniemi, K Partanen, et al.
The Journal of Biological Chemistry|August 15, 1988
A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic motherH Kuivaniemi, C Sabol, G Tromp, et al.
The Journal of Surgical Research|January 16, 1999
Degradation of basement membrane by prostate tumor heparanaseM A Kosir, W Wang, K L Zukowski, et al.
The Journal of Investigative Dermatology|September 1, 1995
Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skippingH Kuivaniemi, G Tromp, W F Bergfeld, et al.
The Journal of Biological Chemistry|November 15, 1989
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IVG Tromp, H Kuivaniemi, C Stolle, et al.
Annales De Dermatologie Et De Venereologie|June 1, 2005
[Nail abnormalities and scleroderma-like lesions on the face associated with systemic amyloidosis]C Cholez, J-F Cuny, J Pouaha, et al.
Human Mutation|January 1, 1997
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IVD W Anderson, S Thakker-Varia, G Tromp, et al.
Human Mutation|January 1, 1996
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfectaJ Zhuang, G Tromp, H Kuivaniemi, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|July 1, 1990
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IVS Kontusaari, G Tromp, H Kuivaniemi, et al.
The Journal of Clinical Investigation|November 1, 1990
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysmsS Kontusaari, G Tromp, H Kuivaniemi, et al.
The European Journal of Surgery = Acta Chirurgica|August 1, 1996
Familial abdominal aortic aneurysms: screening of 71 familiesP Jaakkola, H Kuivaniemi, K Partanen, et al.
The Journal of Biological Chemistry|August 15, 1988
A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic motherH Kuivaniemi, C Sabol, G Tromp, et al.
The Journal of Surgical Research|January 16, 1999
Degradation of basement membrane by prostate tumor heparanaseM A Kosir, W Wang, K L Zukowski, et al.
The Journal of Investigative Dermatology|September 1, 1995
Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skippingH Kuivaniemi, G Tromp, W F Bergfeld, et al.
The Journal of Biological Chemistry|November 15, 1989
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IVG Tromp, H Kuivaniemi, C Stolle, et al.
Annales De Dermatologie Et De Venereologie|June 1, 2005
[Nail abnormalities and scleroderma-like lesions on the face associated with systemic amyloidosis]C Cholez, J-F Cuny, J Pouaha, et al.
Human Mutation|January 1, 1997
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IVD W Anderson, S Thakker-Varia, G Tromp, et al.
Human Mutation|January 1, 1996
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfectaJ Zhuang, G Tromp, H Kuivaniemi, et al.
Pageof 8